List of variants in gene EVC studied for Curry-Hall syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=)	rs6446393	0.95639
NM_153717.3(EVC):c.2305-8T>C	rs1031919	0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His)	rs6414624	0.72068
NM_153717.3(EVC):c.2894+18A>G	rs2279250	0.71871
NM_153717.3(EVC):c.939+10A>G	rs2286342	0.67122
NM_153717.3(EVC):c.*14G>A	rs2291151	0.61437
NM_153717.3(EVC):c.802-15C>T	rs4689313	0.60798
NM_153717.3(EVC):c.1026G>C (p.Leu342=)	rs4688962	0.52761
NM_153717.3(EVC):c.969T>C (p.Asn323=)	rs4688963	0.40746
NM_153717.3(EVC):c.1099-19T>C	rs899691	0.37351
NM_153717.3(EVC):c.939+4C>T	rs2286343	0.33466
NM_153717.3(EVC):c.1068A>G (p.Leu356=)	rs33929747	0.26691
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626	0.07232
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)	rs113002470	0.00051
NM_153717.3(EVC):c.1059C>T (p.Ala353=)	rs756025432	0.00003
NM_153717.3(EVC):c.1776+5G>A	rs968001713	0.00002
NM_153717.3(EVC):c.2554C>G (p.His852Asp)	rs574669392	0.00002
NM_153717.3(EVC):c.*1684A>G	rs886059515	0.00001
NM_153717.3(EVC):c.1683C>T (p.Val561=)	rs913909906	0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)	rs1373632260	0.00001
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser)	rs762716384	0.00001
NM_153717.3(EVC):c.2305-5C>G	rs760071065	0.00001
NM_153717.3(EVC):c.704_705insTT	rs886059511
NM_153717.3(EVC):c.*877C>T	rs886059512
NM_153717.3(EVC):c.-138GA[1]	rs886059494
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)	rs2302075
NM_153717.3(EVC):c.1465-1G>A	rs1731156302
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)	rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=)	rs11737221
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro)	rs372089496
NM_153717.3(EVC):c.2449+15del	rs398092136
NM_153717.3(EVC):c.2449+8del	rs886059507
NM_153717.3(EVC):c.2895-10_2895-9del	rs371125826
NM_153717.3(EVC):c.801+1G>T

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